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Disease Browser
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar Ataxia 17 (C564616)

       Child Nodes:



 Sister Nodes: 
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAtaxia Telangiectasia (D001260) Child6
..expandChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..expandGemignani syndrome (C537678)
..expandMachado-Joseph Disease (D017827) Child1
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..expandSpastic Ataxia (C564815)
..expandSpastic ataxia Charlevoix-Saguenay type (C536787)
..expandSpinocerebellar Ataxia 10 (C566874)
..expandSpinocerebellar Ataxia 11 (C565772)
..expandSpinocerebellar Ataxia 12 (C565790)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..expandSpinocerebellar ataxia 30 (C575214)
..expandSpinocerebellar Ataxia 31 (C566146)
..expandSpinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..expandSpinocerebellar Ataxia with Dysmorphism (C564802)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..expandSpinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..expandSpinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10498
Name:Spinocerebellar Ataxia 17
Definition:
Alternative IDs:OMIM:607136
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C564616 |C10.228.140.252.700.700/C564616 |C10.228.854.787.875/C564616 |C10.574.500.825.700/C564616 |C10.597.350.090.500.530/C564616 |C16.320.400.780.875/C564616
Synonyms:HDL4 |Huntington Disease-Like 4 |SCA17
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C564616
MeSH: C564616
OMIM: 607136;

Genes: TBP;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000718Aggressive behavior
3 HP:0002186Apraxia
4 HP:0002067Bradykinesia
5 HP:0002136Broad-based gait
6 HP:0001272Cerebellar atrophy
7 HP:0002072Chorea
8 HP:0001289Confusion
9 HP:0000716Depression
10 HP:0002506Diffuse cerebral atrophy
11 HP:0001260Dysarthria
12 HP:0001310Dysmetria
13 HP:0002015Dysphagia
14 HP:0001332Dystonia
15 HP:0000727Frontal lobe dementia
16 HP:0000743Frontal release signs
17 HP:0002066Gait ataxia
18 HP:0000640Gaze-evoked nystagmus
19 HP:0002171Gliosis
20 HP:0000738Hallucinations
21 HP:0007668Impaired pursuit initiation and maintenance
22 HP:0002080Intention tremor
23 HP:0000757Lack of insight
24 HP:0002070Limb ataxia
25 HP:0002300Mutism
26 HP:0001336Myoclonus
27 HP:0002529Neuronal loss in central nervous system
28 HP:0011999Paranoia
29 HP:0001300Parkinsonism
30 HP:0002403Positive Romberg sign
31 HP:0003676Progressive
32 HP:0002063Rigidity
33 HP:0001250Seizure
34 HP:0000020Urinary incontinence
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003194.4(TBP):c.172_174CAG(25_42) (p.Gln95(25_42))6908TBPPathogenic;risk factor193922935RCV000010056; RCV000010057; NMedGen:C1846707,OMIM:607136,ORPHA:98759; MedGen:C3160718,OMIM:168600,SNOMED CT:490490006170870996170870998NM_003194.4:c.172_174CAG(25_42)NP_003185.1:p.Gln95(25_42)OMIM Allelic Variant:600075.0001C3160718 168600 Parkinson disease, late-onset; C1846707 607136 Spinocerebellar ataxia 17